Molecular studies of deletions at the human steroid sulfatase locus

Journal Article · Tue Oct 31 23:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.21.8477· OSTI ID:6906464

Shapiro, L J; Yen, P; Pomerantz, D; Martin, E; Rolewic, L; Mohandas, T ^[1]

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1. Univ. of California, Los Angeles (USA)

The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in a segment of DNA that is unique to the X chromosome. In contrast to most X chromosome-encoded genes, STS expression is not extinguished during the process of X chromosome inactivation. Deficiency of STS activity produced the syndrome of X chromosome-linked ichthyosis, which is one of the most common inborn errors of metabolism in man. Approximately 90% of STS{sup {minus}} individuals have large deletions at the STS locus. The authors and others have found that the end points of such deletions are heterogeneous in their location. One recently ascertained subject was observed to have a 40-kilobase deletion that is entirely intragenic, permitting the cloning and sequencing of the deletion junction. Studies of this patient and of other X chromosome sequences in other subjects permit some insight into the mechanism(s) responsible for generating frequent deletions on the short arm of the X chromosome.

• OSTI ID: 6906464
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Journal Issue: 21 Vol. 86:21; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
ANIMAL CELLS
ANIMALS
CARBOXYLIC ACIDS
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CONNECTIVE TISSUE CELLS
DISEASES
DNA
DNA SEQUENCING
ENZYMES
ESTERASES
FIBROBLASTS
HEREDITARY DISEASES
HETEROCHROMOSOMES
HYDROGEN COMPOUNDS
HYDROLASES
LEUCINE
MAMMALS
MAN
MOLECULAR BIOLOGY
MUTATIONS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
PATIENTS
PRIMATES
RECOMBINANT DNA
SOMATIC CELLS
STEROIDS
STRUCTURAL CHEMICAL ANALYSIS
TRITIUM COMPOUNDS
VERTEBRATES
X CHROMOSOME